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Article

Comprehensive phenotypic and genomic characterization of venous malformations.

Human pathology - 1 Mar 2024

Hirose Katsutoshi, Hori Yumiko, Ozeki Michio, Motooka Daisuke, Hata Kenji, Tahara Shinichiro, Matsui Takahiro, Kohara Masaharu, Maruyama Kazuaki, Imanaka-Yoshida Kyoko, Toyosawa Satoru, Morii Eiichi

Abstract excerpt

Venous malformations (VMs) are the most common vascular malformations. TEK and PIK3CA are the causal genes of VMs, and may be involved in the PI3K/AKT pathway. However, the downstream mechanisms underlying the TEK or PIK3CA mutations in VMs are not completely understood. This study aimed to identify a possible association between genetic mutations and clinicopathological features. A retrospective clinical,...

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Identifiers

PMID: 38367816
DOI: 10.1016/j.humpath.2024.02.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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